Congenital Muscular Dystrophy Type 1A
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Congenital Muscular Dystrophy Type 1A Overview

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Learn About Congenital Muscular Dystrophy Type 1A

What is the definition of Congenital Muscular Dystrophy Type 1A?
Congenital muscular dystrophy type 1A (MDC1A) belongs to a group of neuromuscular disorders that beings at birth or infancy and is characterized mainly by hypotonia, muscle weakness and muscle wasting. Other signs and symptoms include rigidity of the spine; scoliosis; and delayed, limited motor development, with most individuals needing assistive devices for mobility. Respiratory problems, feeding disorders and seizures may also occur. With time, affected individuals may develop an elongated face and ophthalmoplegia disorders (paralysis or weakness in muscles of the eye). Intellectual development is typically normal. It is caused by genetic changes in the LAMA2 gene and is inherited in an autosomal recessive manner.
What are the alternative names for Congenital Muscular Dystrophy Type 1A?
  • Congenital muscular dystrophy type 1A
  • Muscular dystrophy white matter spongiosis
  • LAMA2-related muscular dystrophy
  • Laminin alpha-2 deficiency
  • MDC1A
  • Merosin-deficient congenital muscular dystrophy
  • Merosin-negative congenital muscular dystrophy
  • Muscular dystrophy, congenital, merosin-deficient
  • Atrophie blanche
Who are the top Congenital Muscular Dystrophy Type 1A Local Doctors?
Ajay Kumar
Distinguished in Congenital Muscular Dystrophy Type 1A
Dr. Ajay Kumar
Internal Medicine
Distinguished in Congenital Muscular Dystrophy Type 1A
Dr. Ajay Kumar
Internal Medicine

Ajay Kumar MD LLC

132 Sparta Hwy, 
Eatonton, GA 
706-485-8495
Languages Spoken:
English
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Ajay Kumar is a primary care provider, practicing in Internal Medicine in Eatonton, Georgia. Dr. Kumar is rated as a Distinguished provider by MediFind in the treatment of Congenital Muscular Dystrophy Type 1A. His top areas of expertise are Congenital Muscular Dystrophy Type 1A, Asthma in Children, Asthma, and Grass Allergy.

Kevin Murphy
Advanced in Congenital Muscular Dystrophy Type 1A
Dr. Kevin Murphy
Family Medicine
Advanced in Congenital Muscular Dystrophy Type 1A
Dr. Kevin Murphy
Family Medicine

Christus

9220 Ellerbe Rd., Suite 700, Suite 700, 
Shreveport, LA 
318-681-5282
Languages Spoken:
English
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Kevin Murphy is a primary care provider, practicing in Family Medicine in Shreveport, Louisiana. Dr. Murphy is rated as an Advanced provider by MediFind in the treatment of Congenital Muscular Dystrophy Type 1A. His top areas of expertise are Tubular Aggregate Myopathy, Collagen VI-Related Myopathy, Congenital Muscular Dystrophy Type 1A, and X-Linked Myotubular Myopathy.

 
 
 
 
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Distinguished in Congenital Muscular Dystrophy Type 1A
Dr. James J. Dowling
Neurology
Distinguished in Congenital Muscular Dystrophy Type 1A
Dr. James J. Dowling
Neurology

Penn Neuroscience Center - Neurology

3400 Civic Center Boulevard, South Pavilion, 2nd Floor, 
Philadelphia, PA 
800-789-7366
Languages Spoken:
English
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Accepting New Patients

James Dowling is a Neurologist in Philadelphia, Pennsylvania. Dr. Dowling is rated as a Distinguished provider by MediFind in the treatment of Congenital Muscular Dystrophy Type 1A. His top areas of expertise are Tubular Aggregate Myopathy, Congenital Fiber-Type Disproportion, X-Linked Myotubular Myopathy, and Horizontal Gaze Palsy with Progressive Scoliosis. Dr. Dowling is currently accepting new patients.

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center